Compound Heterozygous LTBP2 Mutations Associated With Juvenile-Onset Open-Angle Glaucoma and Marfan-Like Phenotype

Zachary Bergman; Katherine Anderson; Rachel W Kuchtey

doi:10.1001/jamaophthalmol.2023.1488

Compound Heterozygous LTBP2 Mutations Associated With Juvenile-Onset Open-Angle Glaucoma and Marfan-Like Phenotype

JAMA Ophthalmol. 2023 Jun 1;141(6):607-609. doi: 10.1001/jamaophthalmol.2023.1488.

Authors

Zachary Bergman¹, Katherine Anderson², Rachel W Kuchtey^{1

3}

Affiliations

¹ Vanderbilt Eye Institute, Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, Tennessee.
² Vanderbilt Heart and Vascular Institute, Division of Cardiovascular Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
³ Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee.

PMID: 37166811
DOI: 10.1001/jamaophthalmol.2023.1488

No abstract available

Plain language summary

This case report describes a patient diagnosed at age 13 years with glaucoma who later presented with elevated intraocular pressure, severe cupping, open iridocorneal angle, and lens dislocation.

Publication types

Case Reports

MeSH terms

Glaucoma* / genetics
Glaucoma, Open-Angle* / diagnosis
Glaucoma, Open-Angle* / genetics
Humans
Intraocular Pressure
Latent TGF-beta Binding Proteins / genetics
Marfan Syndrome* / diagnosis
Marfan Syndrome* / genetics
Mutation
Phenotype

Substances

Latent TGF-beta Binding Proteins
LTBP2 protein, human